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1
Congenital Glucose-Galactose Malabsorption: A Case Report.先天性葡萄糖-半乳糖吸收不良：一例报告
J Pediatr Health Care. 2017 Jul-Aug;31(4):506-510. doi: 10.1016/j.pedhc.2017.01.005. Epub 2017 Mar 7.
2
Congenital glucose-galactose malabsorption diagnosed from macrohematuria in an infant.一名婴儿因肉眼血尿被诊断为先天性葡萄糖-半乳糖吸收不良。
Pediatr Int. 2016 Dec;58(12):1365-1366. doi: 10.1111/ped.13047.
3
Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene.一名土耳其新生儿的先天性葡萄糖-半乳糖吸收不良：钠/葡萄糖协同转运蛋白基因的新突变
Dig Dis Sci. 2017 Jan;62(1):280-281. doi: 10.1007/s10620-016-4348-2. Epub 2016 Oct 25.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
5
Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia.先天性葡萄糖-半乳糖吸收不良：沙特阿拉伯西部的临床特征及预后描述性研究
Arab J Gastroenterol. 2014 Mar;15(1):21-3. doi: 10.1016/j.ajg.2014.01.004. Epub 2014 Feb 1.
6
Congenital diarrheal disorders: an updated diagnostic approach.先天性腹泻性疾病：最新诊断方法
Int J Mol Sci. 2012;13(4):4168-4185. doi: 10.3390/ijms13044168. Epub 2012 Mar 29.
7
Glucose Galactose Malabsorption complicated with Rickets and Nephrogenic Diabetes Insipidus.葡萄糖半乳糖吸收不良合并佝偻病和肾性尿崩症。
Oman Med J. 2008 Jul;23(3):197-8.
8
Analysis and update of the human solute carrier (SLC) gene superfamily.人类溶质载体（SLC）基因超家族的分析与更新
Hum Genomics. 2009 Jan;3(2):195-206. doi: 10.1186/1479-7364-3-2-195.
9
Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.葡萄糖-半乳糖吸收不良中的肾钙质沉着症：一名患有SGLT1新突变的幼儿的肾钙质沉着症和近端肾小管功能障碍
Eur J Pediatr. 2008 Dec;167(12):1395-8. doi: 10.1007/s00431-008-0681-6. Epub 2008 Feb 21.
10
Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis.葡萄糖-半乳糖吸收不良中的肾钙质沉着症，与肾小管酸中毒的关联。
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先天性葡萄糖-半乳糖吸收不良：一例伴有新突变的病例报告。

Congenital glucose-galactose malabsorption: A case report with a novel mutation.

作者信息

Al-Lawama Manar, Albaramki Jumana, Altamimi Mutaz, El-Shanti Hatem

机构信息

Department of Pediatrics, School of Medicine The university of Jordan Amman Jordan.

Department of Pediatrics, College of Medicine University of Iowa Iowa City Iowa.

出版信息

Clin Case Rep. 2018 Nov 11;7(1):51-53. doi: 10.1002/ccr3.1913. eCollection 2019 Jan.

DOI:10.1002/ccr3.1913
PMID:30656007
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6333054/
Abstract

A three-day-old newborn girl presented with decreased feeding and dehydration. She was sick and in shock. She had renal impairment and hypernatremia. With the resumption of breast feeding, she developed watery stools and hypernatremia. Glucose-Galactose Malabsorption was suspected and confirmed by the presence of a likely pathogenic homozygous variant in .

摘要

一名3日龄女婴出现喂养减少和脱水症状。她病情严重且处于休克状态。她存在肾功能损害和高钠血症。在恢复母乳喂养后，她出现了水样便和高钠血症。怀疑是葡萄糖 - 半乳糖吸收不良，并通过在……中存在可能致病的纯合变异得到证实。